Case report: <i>LMNB1</i> duplication-mediated autosomal dominant adult leukodystrophy in a Chinese family and literature review of Chinese patients.

ABSTRACT: Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare, slowly progressive, and fatal neurodegenerative disorder characterized by central nervous system white matter loss due to LMNB1 gene abnormalities encoding laminB1. However, not all LMNB1 mutations lead to ADLD. Currently, two genetic alterations have been identified in association with the pathogenesis of ADLD: LMNB1 gene tandem duplication and LMNB1 gene upstream deletions. We report a case of a 60-year-old man diagnosed with ADLD, with pyramidal tract dysfunction and autonomic abnormalities as the main clinical manifestations. MRI revealed bilateral symmetric high signal intensities in the white matter of the medulla oblongata, middle cerebellar peduncles, cerebral peduncle, periventricular white

SUBMITTER: Jiang Y 

PROVIDER: S-EPMC11880262 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature